Variant report

Variant	rs17087136
Chromosome Location	chr5:96226863-96226864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1057808	1.00[MKK][hapmap]
rs17087083	1.00[AFR][1000 genomes]
rs17087104	1.00[AFR][1000 genomes]
rs17087117	1.00[AFR][1000 genomes]
rs17087129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17486181	1.00[GIH][hapmap];1.00[MKK][hapmap]
rs17531213	1.00[MKK][hapmap]
rs17531366	0.87[MKK][hapmap]
rs17628359	1.00[MKK][hapmap]
rs17684739	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
3	chr5:96213200-96229200	Weak transcription	Aorta	Aorta
4	chr5:96213400-96237800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:96213400-96243800	Weak transcription	HepG2	liver
6	chr5:96213400-96247000	Weak transcription	Fetal Lung	lung
7	chr5:96217400-96229200	Weak transcription	Colonic Mucosa	Colon
8	chr5:96217600-96228800	Weak transcription	HSMM	muscle
9	chr5:96217600-96241600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:96217600-96250000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:96217800-96228800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:96217800-96229200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:96217800-96229200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:96217800-96237800	Weak transcription	NHDF-Ad	bronchial
15	chr5:96218000-96229000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:96218000-96229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:96218000-96229200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:96218000-96237000	Weak transcription	NHLF	lung
19	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
20	chr5:96218200-96228600	Weak transcription	NH-A	brain
21	chr5:96218200-96228800	Weak transcription	NHEK	skin
22	chr5:96218200-96231400	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:96218200-96232000	Weak transcription	Brain Anterior Caudate	brain
24	chr5:96218200-96237000	Weak transcription	Hela-S3	cervix
25	chr5:96218600-96259600	Weak transcription	HMEC	breast
26	chr5:96218800-96228600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:96220400-96228600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:96221000-96236600	Weak transcription	Fetal Intestine Small	intestine
29	chr5:96221600-96229000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
31	chr5:96221800-96228800	Weak transcription	Osteobl	bone
32	chr5:96221800-96229200	Weak transcription	Esophagus	oesophagus
33	chr5:96221800-96235600	Weak transcription	Right Atrium	heart
34	chr5:96221800-96242200	Strong transcription	Dnd41	blood
35	chr5:96222000-96230600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:96222200-96227800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:96222400-96231800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:96222400-96242600	Strong transcription	Fetal Thymus	thymus
40	chr5:96222400-96247200	Weak transcription	Psoas Muscle	Psoas
41	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
42	chr5:96222600-96229000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:96222600-96229200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:96222600-96229200	Weak transcription	Fetal Intestine Large	intestine
45	chr5:96222600-96232000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:96223000-96230200	Strong transcription	GM12878-XiMat	blood
47	chr5:96223200-96240400	Strong transcription	Liver	Liver
48	chr5:96223400-96231600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:96223600-96228600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:96223600-96231400	Strong transcription	Primary monocytes fromperipheralblood	blood

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